ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827932625
Gene: PFKM
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000001213
ClinVar Variation:
1154
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341672.1:p.Arg39Pro
CA114800
NM_001354743.2:c.116G>C